NME8 NME/NM23 family member 8
Gene ID: 51314, updated on 4-Jan-2025Gene type: protein coding
Also known as: CILD6; DNAI8; SPTRX2; TXNDC3; NM23-H8; sptrx-2; HEL-S-99
- See all available tests in GTR for this gene
- Go to complete Gene record for NME8
- Go to Variation Viewer for NME8 variants
Summary
This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. GeneReviews: Not available | |
| Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. GeneReviews: Not available | |
| Primary ciliary dyskinesia 6 | See labs |
Genomic context
- Location:
- 7p14.1
- Sequence:
- Chromosome: 7; NC_000007.14 (37848597..37900397)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NME8 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- NME8 database
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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